4508[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 209212	NC_012920.1:m.5782_13922del8141	MT-TS2, MT-TY +17 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 209213	NC_012920.1:m.5794_14876del9083	MT-ATP6, MT-TL2 +20 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 430674	NC_012920.1:m.6003_11220del5218	MT-TD, MT-TG +11 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430675	NC_012920.1:m.6469_15587del9119	MT-ATP8, MT-CO1 +18 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430676	NC_012920.1:m.7129_13991del6863	MT-ND4, MT-TH +15 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430677	NC_012920.1:m.7730_11255del3526	MT-TR, MT-CO3 +8 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430678	NC_012920.1:m.8290_13040del4751	MT-ATP6, MT-ATP8 +11 more	Deletion	Mitochondrial disease	GPathogenic
Select item 638147	NC_012920.1:m.8350_13450del	MT-TR, MT-TS2 +11 more	Deletion	Pearson syndrome	GPathogenic
Select item 430680	NC_012920.1:m.8483_13459del4977	MT-TG, MT-TH +10 more	Deletion	Mitochondrial disease	GPathogenic
Select item 638146	NC_012920.1:m.8480_13440del	MT-ATP6, MT-ATP8 +10 more	Deletion	Pearson syndrome	GPathogenic
Select item 235294	NC_012920.1:m.8527A>G	MT-ATP8, MT-ATP6	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 9640	m.8528T>C	MT-ATP6, MT-ATP8	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9639	m.8529G>A	MT-ATP8, MT-ATP6	Single nucleotide variant	Cardiomyopathy, apical hypertrophic, and neuropathy	GPathogenic
Select item 692887	NC_012920.1:m.8530A>G	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692888	NC_012920.1:m.8531A>G	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692889	NC_012920.1:m.8533G>A	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692890	NC_012920.1:m.8537A>G	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 235326	NC_012920.1:m.8538T>C	MT-ATP6, MT-ATP8	Single nucleotide variant	not provided	GUncertain significance
Select item 235227	NC_012920.1:m.8540T>C	MT-ATP6, MT-ATP8	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 692891	NC_012920.1:m.8541G>A	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692892	NC_012920.1:m.8542T>C	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692893	NC_012920.1:m.8545G>A	MT-ATP8, MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692894	NC_012920.1:m.8547T>C	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692895	NC_012920.1:m.8548T>C	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692896	NC_012920.1:m.8550A>G	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692897	NC_012920.1:m.8551T>C	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692898	NC_012920.1:m.8552T>C	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 618720	NC_012920.1:m.8553C>T	MT-ATP8, MT-ATP6	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 692899	NC_012920.1:m.8554A>G	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692901	NC_012920.1:m.8557G>C	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692900	NC_012920.1:m.8557G>A	MT-ATP6, MT-ATP8	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 590998	NC_012920.1:m.8561_8562insCAC	MT-ATP6, MT-ATP8	Duplication	Abnormal mitral valve physiology	GPathogenic
Select item 692902	NC_012920.1:m.8562C>T	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692903	NC_012920.1:m.8563A>G	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 235492	NC_012920.1:m.8565A>G	MT-ATP6, MT-ATP8	Single nucleotide variant	not provided	GUncertain significance
Select item 692904	NC_012920.1:m.8566A>G	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692905	NC_012920.1:m.8567T>C	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 918019	NC_012920.1:m.8568C>T	MT-ATP6, MT-ATP8	Single nucleotide variant	not provided	Gnot provided
Select item 692906	NC_012920.1:m.8568C>A	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692907	NC_012920.1:m.8572G>A	MT-ATP6, MT-ATP8	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692908	NC_012920.1(MT-ATP6):m.8573G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692909	NC_012920.1(MT-ATP6):m.8576T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692910	NC_012920.1(MT-ATP6):m.8578C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692911	NC_012920.1(MT-ATP6):m.8581G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692912	NC_012920.1(MT-ATP6):m.8582C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692913	NC_012920.1(MT-ATP6):m.8584G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 430681	NC_012920.1:m.8587_12967del4381	MT-ND4L, MT-ND5 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 692914	NC_012920.1(MT-ATP6):m.8588T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692915	NC_012920.1(MT-ATP6):m.8591T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692916	NC_012920.1(MT-ATP6):m.8593A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692917	NC_012920.1(MT-ATP6):m.8596A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692918	NC_012920.1(MT-ATP6):m.8597T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692919	NC_012920.1(MT-ATP6):m.8599C>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692920	NC_012920.1(MT-ATP6):m.8602T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692921	NC_012920.1(MT-ATP6):m.8603T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692922	NC_012920.1(MT-ATP6):m.8605C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692923	NC_012920.1(MT-ATP6):m.8609C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692924	NC_012920.1(MT-ATP6):m.8612T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692925	NC_012920.1(MT-ATP6):m.8615T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 235626	NC_012920.1(MT-ATP6):m.8616G>T	MT-ATP6	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 692926	NC_012920.1(MT-ATP6):m.8617A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 9648	m.8618dupT	MT-ATP6	Duplication	NARP syndrome	GPathogenic
Select item 692927	NC_012920.1(MT-ATP6):m.8618T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 235451	NC_012920.1:m.8619C>T	MT-ATP6	Single nucleotide variant	not provided	GLikely benign
Select item 692930	NC_012920.1(MT-ATP6):m.8623A>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692929	NC_012920.1(MT-ATP6):m.8623A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692928	NC_012920.1(MT-ATP6):m.8623A>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692931	NC_012920.1(MT-ATP6):m.8624C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692932	NC_012920.1(MT-ATP6):m.8626T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692933	NC_012920.1(MT-ATP6):m.8632T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692934	NC_012920.1(MT-ATP6):m.8635C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 1326905	NC_012920.1(MT-ATP6):m.8636T>C	MT-ATP6	Single nucleotide variant	not provided	Gnot provided
Select item 692935	NC_012920.1(MT-ATP6):m.8638A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692936	NC_012920.1(MT-ATP6):m.8639T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692937	NC_012920.1(MT-ATP6):m.8641A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692939	NC_012920.1(MT-ATP6):m.8642A>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692938	NC_012920.1(MT-ATP6):m.8642A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692940	NC_012920.1(MT-ATP6):m.8648G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 441129	NC_012920.1:m.8651T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692941	NC_012920.1(MT-ATP6):m.8653A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692942	NC_012920.1(MT-ATP6):m.8654T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692943	NC_012920.1(MT-ATP6):m.8656A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692944	NC_012920.1(MT-ATP6):m.8657C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692945	NC_012920.1(MT-ATP6):m.8659A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692946	NC_012920.1(MT-ATP6):m.8666A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692947	NC_012920.1(MT-ATP6):m.8668T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 618717	NC_012920.1:m.8669G>C	MT-ATP6	Single nucleotide variant	not provided	GUncertain significance
Select item 692948	NC_012920.1(MT-ATP6):m.8679A>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692949	NC_012920.1(MT-ATP6):m.8681T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692950	NC_012920.1(MT-ATP6):m.8683A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692951	NC_012920.1(MT-ATP6):m.8684C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 618718	NC_012920.1:m.8686T>A	MT-ATP6	Single nucleotide variant	not provided	GUncertain significance
Select item 585120	NC_012920.1:m.8686T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692952	NC_012920.1(MT-ATP6):m.8697G>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692953	NC_012920.1(MT-ATP6):m.8699T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692954	NC_012920.1(MT-ATP6):m.8700A>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692955	NC_012920.1(MT-ATP6):m.8701A>G	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692956	NC_012920.1(MT-ATP6):m.8702C>T	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 235260	NC_012920.1(MT-ATP6):m.8704A>G	MT-ATP6	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 692957	NC_012920.1(MT-ATP6):m.8705T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign

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